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References from A truncating ELF4 variant in a pediatric patient with autoinflammatory disease and cell type-specific immune alterations. Local targets link to admitted publications; unresolved targets remain external evidence.
ELF4 is critical for induction of type I interferon and the host antiviral response
10.1038/ni.2756 · 2013 · External reference
An ELF4 hypomorphic variant results in NK cell deficiency
10.1172/jci.insight.155481 · 2022 · External reference
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation
10.1038/s41590-021-00984-4 · 2021 · External reference
Transcription factor ELF4 controls the proliferation and homing of CD8+ T cells via the krüppel-like factors KLF4 and KLF2
10.1038/ni.1730 · 2009 · External reference
The transcription factor E74-like factor 4 suppresses differentiation of proliferating CD4+ T cells to the Th17 lineage
10.4049/jimmunol.1301372 · 2014 · External reference
A multicenter cohort study of immune dysregulation disorders caused by ELF4 variants in China
10.1007/s10875-023-01453-3 · 2023 · External reference
A novel frameshift variant of the ELF4 gene in a patient with autoinflammatory disease: Clinical features, transcriptomic profiling and functional studies
10.1007/s10875-024-01732-7 · 2024 · External reference
Deficiency in ELF4, X-Linked: a monogenic disease entity resembling Behçet’s syndrome and inflammatory bowel disease
10.1007/s10875-023-01610-8 · 2024 · External reference
Loss of function mutation in ELF4 causes autoinflammatory and immunodeficiency disease in human
10.1007/s10875-022-01243-3 · 2022 · External reference
X-linked deficiency in ELF4 in females with skewed X chromosome inactivation
10.1007/s10875-025-01866-2 · 2025 · External reference
Current understanding of ELF4 deficiency: a novel inborn error of immunity
10.1007/s12519-024-00807-0 · 2024 · External reference
A novel ELF4 gene variant disrupts T and NK cell function in a patient with immune thrombocytopenia (ITP)
10.1007/s00011-026-02270-1 · 2026 · External reference
Novel loss-of-function intronic mutation in ELF4 is associated with intestinal autoinflammation
10.1016/j.mucimm.2025.09.007 · 2025 · External reference
Somatic mutations in autoinflammatory and autoimmune disease
10.1038/s41584-024-01168-8 · 2024 · External reference
Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives
10.1016/j.smim.2023.101761 · 2023 · External reference
Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease
10.1056/nejmoa2026834 · 2020 · External reference
Somatic gain-of-function mutation in TLR7 causes early-onset systemic lupus erythematosus
10.1016/j.ard.2025.01.011 · 2025 · External reference
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function
10.1182/blood.2020009620 · 2021 · External reference
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an international multicenter collaborative study
10.1002/art.30512 · 2011 · External reference
Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function
10.1016/j.immuni.2020.07.006 · 2020 · External reference
Haploinsufficiency of PSMD12 causes proteasome dysfunction and subclinical autoinflammation
10.1002/art.42070 · 2022 · External reference
VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation
10.1038/s41467-024-44811-4 · 2024 · External reference
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS
10.1016/j.xcrm.2023.101160 · 2023 · External reference
Single-cell nascent transcription reveals sparse genome usage and plasticity
10.1016/j.cell.2025.09.003 · 2025 · External reference
Advancements in single-cell RNA sequencing and spatial transcriptomics: transforming biomedical research
10.3389/abp.2025.13922 · 2025 · External reference
fastp: an ultra-fast all-in-one FASTQ preprocessor
10.1093/bioinformatics/bty560 · 2018 · External reference
High throughput detection of variation in single-cell whole transcriptome through streamlined scFAST-seq
10.1101/2023.03.19.533382 · 2023 · External reference
Droplet barcoding for single-cell transcriptomics applied to embryonic stem cells
10.1016/j.cell.2015.04.044 · 2015 · External reference
Massively parallel digital transcriptional profiling of single cells
10.1038/ncomms14049 · 2017 · External reference
The ETS protein MEF plays a critical role in perforin gene expression and the development of natural killer and NK-T cells
10.1016/s1074-7613(02)00422-3 · 2002 · External reference
Analysis of the FBXO7 promoter reveals overlapping Pax5 and c-myb binding sites functioning in B cells
10.1016/j.bbrc.2021.03.052 · 2021 · External reference
KLF4 is a FOXO target gene that suppresses B cell proliferation
10.1093/intimm/dxn024 · 2008 · External reference
Myeloid ELF1-like factor is a potent activator of interleukin-8 expression in hematopoietic cells
10.1074/jbc.m307524200 · 2004 · External reference
